Product Details

SNP ID

rs2241581

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.5:178241881 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACCAGAGCAAGGGGAACCGCGATGA[C/T]GGCAGTAGCAGCAGCAGTGGCCCTG

Phenotype

MIM: 610043 MIM: 614683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COL23A1 PubMed Links

Gene Details

Gene

COL23A1

Gene Name

collagen type XXIII alpha 1 chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173465.3		Intron			NP_775736.2
XM_006714933.3		Intron			XP_006714996.1
XM_006714934.3		Intron			XP_006714997.1
XM_006714935.3		Intron			XP_006714998.1
XM_006714936.3		Intron			XP_006714999.1
XM_011534688.2		Intron			XP_011532990.1
XM_011534689.2		Intron			XP_011532991.1
XM_011534690.2		Intron			XP_011532992.1
XM_011534691.2		Intron			XP_011532993.1
XM_011534692.2		Intron			XP_011532994.1
XM_017010018.1		Intron			XP_016865507.1

Gene

PHYKPL

Gene Name

5-phosphohydroxy-L-lysine phospho-lyase

There are no transcripts associated with this gene.

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